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Genetic screening tests

Genetic screening tests


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It is important for any prospective parent to have a healthy newborn baby. We have a number of tests that can help you determine the risk of certain abnormalities occurring.

Biochemical methods and ultrasound
The incidence of congenital malformations in Hungary is three percent. The causes cannot always be ascertained. Only cases are accompanied by a genetic disorder of multiple origin, a fetal disorder caused by maternal infection, inadequate life-style or environmental damage. The most common and serious disorders are the heart, nervous system, and digestive system.
If you consult a physician shortly before the planned conception, a number of problems, illnesses may develop in the foreseeable future, and the risk of malformations may be reduced. In addition, tests may be performed during pregnancy to help determine the risk of occurrence of certain abnormalities. Screening for all small children is advisable, even in cases where nothing (for example, mother's age or family history) indicates fetal abnormality. This is also a great need because mothers under 35 bring to life seventy-eighty-five children with Down's disease. It is true that the risk of this disorder increases over the age of 35, but younger women are much more likely. However, it should also be known from screening tests that they simply raise the risk of an abnormality being higher than the average, and are not suitable for diagnosing the disease. Further risk studies may then be decided in the light of the risk. However, results can only be refined (ie, diagnosis made) with procedures that are not entirely harmless, as they carry the risk of miscarriage. It follows that the more accurate screening is needed in order to be able to detect the disease more accurately. There is no absolute certainty about a filter, but if you live more than one at a time, the chance rate can be improved.
Biochemical methods and ultrasound
In Hungary, ultrasound examinations are also carried out during the 12th and 18th weeks of pregnancy, which can be performed (for example, fetal cervical radius), and may also have other signs. This is borne out of maternal blood by an examination of a fetal white protein - AFP - and in some places, a leaky hormone, HCG. The amount of each biochemical tracer depends essentially on the fact that the mother is in her third week of pregnancy. With this in mind, the level of the two test substances and the age of the mother can be used to estimate the risk of fetal Down syndrome.
The probability of screening tests can be further improved by defining new biochemical markers (markers). Such test methods are the combined three-dimensional or face-to-face test and the integrated test, which also allow for a better risk assessment.
The recommended test date for the Marker Test is between the 16th and the 20th week of pregnancy. During the test, a biochemical marker is determined from acid obtained from maternal blood. Valuation of results, taking into account the age of the mother, indicates a seventy to ninety percent safety risk for Down's disease.
The integrated test is performed in two steps. The first screening and ultrasound screening for pregnancy is 11-13. week. For the Second Blood, see Figure 16-20. week after week, and the results are evaluated together. This test shows a ninety-ninety-one percent probability of Down Down risk.
In the following, we will discuss diagnostic tests that may confirm or even dispel the suspicion based on the results of the screening test.